MCID: TRC034
MIFTS: 19

Torch Syndrome

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Bone diseases

Aliases & Classifications for Torch Syndrome

MalaCards integrated aliases for Torch Syndrome:

Name: Torch Syndrome 50 69

Classifications:



Summaries for Torch Syndrome

MalaCards based summary : Torch Syndrome is related to pseudo-torch syndrome 1 and pseudo-torch syndrome 2. An important gene associated with Torch Syndrome is OCLN (Occludin). The drugs Armodafinil and Modafinil have been mentioned in the context of this disorder. Related phenotype is Decreased shRNA abundance (Z-score < -2).

Related Diseases for Torch Syndrome

Graphical network of the top 20 diseases related to Torch Syndrome:



Diseases related to Torch Syndrome

Symptoms & Phenotypes for Torch Syndrome

GenomeRNAi Phenotypes related to Torch Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.73 DKC1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.73 DKC1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.73 DKC1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.73 DKC1 USP18
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.73 DKC1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.73 DKC1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.73 USP18
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.73 USP18 DKC1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.73 DKC1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.73 DKC1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.64 USP18
12 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.64 USP18
13 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.64 DKC1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.64 DKC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.64 USP18
16 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.64 USP18
17 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.64 USP18
18 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.64 DKC1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.64 DKC1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 DKC1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.64 DKC1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.64 DKC1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.64 DKC1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.64 DKC1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.64 USP18
26 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.64 DKC1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.64 USP18
28 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.64 USP18 DKC1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.64 USP18
30 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.64 DKC1

Drugs & Therapeutics for Torch Syndrome

Drugs for Torch Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Armodafinil Approved, Investigational Phase 3 112111-43-0
2
Modafinil Approved, Investigational Phase 3 68693-11-8 4236
3 Central Nervous System Stimulants Phase 3
4 Cytochrome P-450 CYP3A Inducers Phase 3
5 Wakefulness-Promoting Agents Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of PROVIGIL ® (Modafinil) Treatment in Children and Adolescents With Excessive Sleepiness Associated With Obstructive Sleep Apnea/Hypopnea Syndrome Completed NCT00107809 Phase 3 Modafinil
2 PROVIGIL® (Modafinil) Treatment in Children and Adolescents With Excessive Sleepiness Associated With Narcolepsy or Obstructive Sleep Apnea/Hypopnea Syndrome Completed NCT00107848 Phase 3 Modafinil
3 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Recruiting NCT02787486

Search NIH Clinical Center for Torch Syndrome

Genetic Tests for Torch Syndrome

Anatomical Context for Torch Syndrome

Publications for Torch Syndrome

Articles related to Torch Syndrome:

id Title Authors Year
1
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation. ( 28761539 )
2017
2
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. ( 27325888 )
2016
3
Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome. ( 25207129 )
2013
4
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). ( 12833411 )
2003
5
Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria. ( 11226724 )
2001
6
TORCH syndrome. ( 7640200 )
1995
7
TORCH syndrome and TORCH screening. ( 1972489 )
1990
8
Charts: the TORCH syndrome revisited. ( 2922243 )
1989
9
The TORCH syndrome: a clinical review. ( 2985660 )
1985
10
The "torch syndrome. ( 177938 )
1976

Variations for Torch Syndrome

Expression for Torch Syndrome

Search GEO for disease gene expression data for Torch Syndrome.

Pathways for Torch Syndrome

GO Terms for Torch Syndrome

Sources for Torch Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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